title: A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.
abstract: Denys-Drash syndrome (DDS) is a rare genetic disorder featuring the triad of Wilms' tumor, early-onset renal failure, and 46, XY disorder of sex development. DDS is usually caused by heterozygous missense mutations in the zinc-finger region of the WT1 gene. The most frequent constitutional WT1 mutations in DDS patients are missense mutations in exons 8 and 9. We present a new case of variable DDS in a child who was found to have a novel heterozygous missense mutation in exon 7 (c.905G>T) and a splicing mutation in exon 6 (IVS6-1G>T).
authors.affiliation: Department of Urology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul, 135-710, South Korea.
authors.forename: Dong-Gi
authors.initials: DG
authors.lastname: Lee
authors.forename: Deok Hyun
authors.initials: DH
authors.lastname: Han
authors.forename: Kwan Hyun
authors.initials: KH
authors.lastname: Park
authors.forename: Minki
authors.initials: M
authors.lastname: Baek
mesh_terms: D030321:Denys-Drash Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016162:Genes, Wilms Tumor; D006579:Heterozygote; D006801:Humans; D007223:Infant; D020125:Mutation, Missense